research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
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690-720 / 1000+ resultsresearch Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Functional characterization and unraveling the structural determinants of novel steroid hydroxylase CYP154C7 from Streptomyces sp. PAMC26508
CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
research Concerted gene duplications in the two keratin gene families
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
Certain gene variants can influence acne risk and severity.
research Recurrent bacterial vaginosis and Netherton's syndrome
Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research 40 PRLR and PCCA variants associated with hair length in Brangus heifers
Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata
Vitamin D receptor gene changes don't affect alopecia areata risk.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome
Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
research Nephronectin is Correlated with Poor Prognosis in Breast Cancer and Promotes Metastasis via its Integrin-Binding Motifs
Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
A specific gene variation in goats is linked to better growth traits.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Intraethnic variation in steroid-5-alpha-reductase polymorphisms in prostate cancer patients: a potential factor implicated in 5-alpha-reductase inhibitor treatment
Genetic differences within ethnic groups may affect prostate cancer treatment effectiveness.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.